Canonical Allele Identifier: CA430241758

Linked Data

MyVariant Identifiers: chr2:g.179409060T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544333T>G , CM000664.2:g.178544333T>G GRCh38
NC_000002.11:g.179409060T>G , CM000664.1:g.179409060T>G GRCh37
NC_000002.10:g.179117306T>G NCBI36
NG_011618.3:g.291470A>C , LRG_391:g.291470A>C
NG_051363.1:g.26507T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88192A>C (TTN) ENSP00000343764.6:p.Arg29398=
ENST00000342175.11:c.69277A>C (TTN) ENSP00000340554.6:p.Arg23093=
ENST00000359218.10:c.69076A>C (TTN) ENSP00000352154.5:p.Arg23026=
ENST00000342175.10:c.69277A>C (TTN) ENSP00000340554.6:p.Arg23093=
ENST00000342992.10:c.88192A>C (TTN) ENSP00000343764.6:p.Arg29398=
ENST00000359218.9:c.69076A>C (TTN) ENSP00000352154.5:p.Arg23026=
ENST00000460472.6:c.68701A>C (TTN) ENSP00000434586.1:p.Arg22901=
ENST00000589042.5:c.95896A>C (TTN) MANE Select ENSP00000467141.1:p.Arg31966=
ENST00000591111.5:c.90973A>C (TTN) ENSP00000465570.1:p.Arg30325=
ENST00000615779.4:c.90973A>C (TTN) ENSP00000483597.1:p.Arg30325=
NM_001256850.1:c.90973A>C (TTN) NP_001243779.1:p.Arg30325=
NM_001267550.2:c.95896A>C (TTN) MANE Select NP_001254479.2:p.Arg31966=
NM_003319.4:c.68701A>C (TTN) NP_003310.4:p.Arg22901=
NM_133378.4:c.88192A>C (TTN) NP_596869.4:p.Arg29398=
NM_133432.3:c.69076A>C (TTN) NP_597676.3:p.Arg23026=
NM_133437.4:c.69277A>C (TTN) NP_597681.4:p.Arg23093=
NR_038271.1:n.446+20697T>G (TTN-AS1)
NR_038272.1:n.2043+1972T>G (TTN-AS1)
XM_011511729.1:c.94993A>C (TTN) XP_011510031.1:p.Arg31665=
XM_011511730.1:c.68887A>C (TTN) XP_011510032.1:p.Arg22963=
XM_011511731.1:c.68746A>C (TTN) XP_011510033.1:p.Arg22916=
XM_017004819.1:c.94789A>C (TTN) XP_016860308.1:p.Arg31597=
XM_017004820.1:c.90187A>C (TTN) XP_016860309.1:p.Arg30063=
XM_017004821.1:c.90184A>C (TTN) XP_016860310.1:p.Arg30062=
XM_017004822.1:c.87226A>C (TTN) XP_016860311.1:p.Arg29076=
XM_017004823.1:c.68842A>C (TTN) XP_016860312.1:p.Arg22948=
XM_024453094.1:c.90337A>C (TTN) XP_024308862.1:p.Arg30113=
XM_024453095.1:c.90334A>C (TTN) XP_024308863.1:p.Arg30112=
XM_024453096.1:c.89767A>C (TTN) XP_024308864.1:p.Arg29923=
XM_024453097.1:c.87109A>C (TTN) XP_024308865.1:p.Arg29037=
XM_024453098.1:c.87028A>C (TTN) XP_024308866.1:p.Arg29010=
XM_024453099.1:c.68791A>C (TTN) XP_024308867.1:p.Arg22931=
XM_024453100.1:c.58645A>C (TTN) XP_024308868.1:p.Arg19549=